Search for dissertations about: "Array-CGH"

Showing result 6 - 10 of 37 swedish dissertations containing the word Array-CGH.

2. 6. Clinical and Genetic Studies of Hearing Impairment

   Author : Carina Frykholm; Ulla Friberg; Hans-Christian Larsen; Niklas Dahl; Marie-Louise Bondeson; Lisbeth Tranebjaerg; Uppsala universitet; []
   Keywords : Otorhinolaryngology; NF2; array-CGH; Meniere’s disease; PIK3C2G; X-linked; progressive; hearing impairment; Otorhinolaryngologi;

   Abstract : Monogenic disorders offer a possibility for studies of genetic disturbances in hearing impairment—a knowledge which could be essential for development of future treatment options. In this thesis, the underlying genetic disturbances in neurofibromatosis 2 (NF2) and familial Meniere’s disease (FMD) were evaluated, and familial X-linked hearing impairment was described from a clinical point of view. READ MORE

4. 7. Studies of Fusion Oncogenes and Genomic Imbalances in Human Tumors

   Author : Fredrik Persson; Göteborgs universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cancer genetics; fusion oncogene; gene amplification; array CGH; PLAG1; HMGA2; FGFR1; MDM2; pleomorphic adenoma; carcinoma ex pleomorphic adenoma; liposarcoma;

   Abstract : Cancer is a genetic disease caused by mutations and chromosome rearrangements affecting oncogenes and tumor suppressor genes in particular. Molecular analyses of recurrent translocations in hematological disorders, as well as in certain solid tumor types, have shown that they frequently result in fusion oncogenes. READ MORE

5. 8. Decoding the Structural Layer of Transcriptional Regulation : Computational Analyses of Chromatin and Chromosomal Aberrations

   Author : Robin Andersson; Jan Komorowski; Jan Dumanski; Claes Wadelius; Anders Krogh; Uppsala universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; Chromatin; Nucleosome positioning; Histone modifications; Chromosomal aberrations; Transcriptional regulation; Array-CGH; Next generation sequencing; ChIP-chip; Bioinformatics; Bioinformatik; Bioinformatics; Bioinformatik;

   Abstract : Gene activity is regulated at two separate layers. Through structural and chemical properties of DNA – the primary layer of encoding – local signatures may enable, or disable, the binding of proteins or complexes of them with regulatory potential to the DNA. READ MORE

6. 9. Towards improved management of Lynch syndrome; ovarian cancer profiles, risk perception, knowledge and family perspectives

   Author : Katarina Bartuma; Bröstcancer-genetik; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ovarian cancer; Lynch syndrome; family relations; communication; interview; genetic knowledge; risk perception; questionnaire; gene expression profiling; array CGH; hereditary breast and ovarian cancer; mismatch repair;

   Abstract : Lynch syndrome (hereditary nonpolyposis colorectal cancer) is one of the most common hereditary cancer syndromes and predisposes to several cancer types, including cancer of the colorectum, endometrium and ovaries. Cancer develops at an early age and one third of the individuals are affected by a metachronous cancer. READ MORE

7. 10. Development and Application of Microarray-Based Comparative Genomic Hybridization : Analysis of Neurofibromatosis Type-2, Schwannomatosis and Related Tumors

   Author : Patrick Buckley; Jan Dumanski; Olivier Delattre; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Genomic microarray; Array-CGH; DNA copy number variation; Neurofibromatosis type-2; Schwannomatosis; Schwannoma; Meningioma; NF2; Chromosome 22; Genetik; Clinical genetics; Klinisk genetik;

   Abstract : Neurofibromatosis type-2 (NF2) is an autosomal dominant disorder with the clinical hallmark of bilateral eighth cranial nerve schwannomas. However, the diagnostic criterion is complicated by the presence of a variable phenotype, with the severe form presenting with additional tumors such as peripheral schwannoma, meningioma and ependymoma. READ MORE